Details of Disease

General Information of Disease (ID: DISB4GJ1)

• Disease Name: GABA aminotransaminase deficiency
• Synonyms: gamma aminobutyric acid transaminase deficiency; gamma aminobutyrate transaminase deficiency; ABAT; GABAT; GABA-transaminase deficiency; 4 alpha aminobutyrate transaminase deficiency; gamma-aminobutyric acid transaminase deficiency; gamma-amino butyric acid transaminase deficiency; GABA transaminase deficiency; GABA aminotransferase deficiency
• Definition: Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.
• Disease Hierarchy:
  DISO1DXG: Disorder of beta and omega amino acid metabolism
  DISJM2EH: Gamma-amino butyric acid metabolism disorder
  DISB4GJ1: GABA aminotransaminase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013166
  MESH ID: C535407
  UMLS CUI: C0342708
  OMIM ID: 613163
  MedGen ID: 137977
  Orphanet ID: 2066
  SNOMED CT ID: 237941007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABAT	TTT2LD9	moderate	CausalMutation	[1]
ABAT	TTT2LD9	Strong	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABAT	OTXAGR7J	Strong	Autosomal recessive	[2]
TMEM186	OTNZHC9F	Strong	CausalMutation	[1]

References

• [1] 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.Front Neurosci. 2019 May 8;13:394. doi: 10.3389/fnins.2019.00394. eCollection 2019.
• [2] 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J Inherit Metab Dis. 1999 Jun;22(4):414-27. doi: 10.1023/a:1005500122231.